Canonical Allele Identifier: CA357502136

Gene: MTTP

Linked Data

• COSMIC: COSM1049439
• MyVariant Identifiers: chr4:g.100504578G>T (hg19) ; chr4:g.99583421G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99583421G>T , CM000666.2:g.99583421G>T	GRCh38
NC_000004.11:g.100504578G>T , CM000666.1:g.100504578G>T	GRCh37
NC_000004.10:g.100723601G>T	NCBI36
NG_011469.1:g.24339G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265517.10:c.297G>T MANE Select	ENSP00000265517.5:p.Lys99Asn
ENST00000457717.6:c.297G>T	ENSP00000400821.1:p.Lys99Asn
ENST00000505094.6:c.48G>T	ENSP00000422782.2:p.Lys16Asn
ENST00000511045.6:c.48G>T	ENSP00000427679.2:p.Lys16Asn
ENST00000265517.9:c.297G>T	ENSP00000265517.5:p.Lys99Asn
ENST00000422897.6:c.297G>T	ENSP00000407350.2:p.Lys99Asn
ENST00000457717.5:c.297G>T	ENSP00000400821.1:p.Lys99Asn
ENST00000505094.5:c.*387G>T	ENSP00000422782.1:n.*387G>T
ENST00000506883.5:c.327G>T	ENSP00000426755.1:p.Lys109Asn
ENST00000511045.5:c.378G>T	ENSP00000427679.1:p.Lys126Asn
ENST00000515141.5:c.*360G>T	ENSP00000425642.1:n.*360G>T
ENST00000619629.1:c.297G>T	ENSP00000482850.1:p.Lys99Asn
NM_000253.3:c.297G>T	NP_000244.2:p.Lys99Asn
NM_001300785.1:c.378G>T	NP_001287714.1:p.Lys126Asn
NM_000253.4:c.297G>T	NP_000244.2:p.Lys99Asn
NM_001300785.2:c.48G>T	NP_001287714.2:p.Lys16Asn
NM_001386140.1:c.297G>T MANE Select	NP_001373069.1:p.Lys99Asn